The Genetic Basis of Pheochromocytoma and Paraganglioma: Implications for Management

Chromaffin cells are catecholamine-producing cells derived from neural crest tissue. Chromaffin tumors are rare tumors arising from these cells and are divided into pheochromocytoma arising from adrenal tissue and paraganglioma arising from extra-adrenal ganglia. Previously, ∼10% were believed to be hereditary, but advances in genome sequencing have shown that roughly 35% of apparently sporadic tumors have a hereditary component. In this review, we describe both classic and newly discovered hereditary chromaffin tumors syndromes and provide recommendations for genetic testing. In many cases, the genes associated with these conditions are linked to common kidney cancer pathways familiar to urologic oncologists.